Incidental Mutation 'R7171:Plekhh2'
| ID |
558311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhh2
|
| Ensembl Gene |
ENSMUSG00000040852 |
| Gene Name |
pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 |
| Synonyms |
|
| MMRRC Submission |
045230-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R7171 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
84819323-84929566 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84829216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 29
(V29D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047206]
|
| AlphaFold |
Q8C115 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047206
AA Change: V29D
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000039628
Gene: ENSMUSG00000040852
AA Change: V29D
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
19 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
132 |
N/A |
INTRINSIC |
|
coiled coil region
|
137 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
427 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
579 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
651 |
N/A |
INTRINSIC |
|
low complexity region
|
657 |
666 |
N/A |
INTRINSIC |
|
PH
|
703 |
798 |
4.7e-19 |
SMART |
|
PH
|
811 |
920 |
1.15e-4 |
SMART |
|
MyTH4
|
954 |
1109 |
8.49e-39 |
SMART |
|
B41
|
1116 |
1353 |
1.01e-27 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (81/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519P11Rik |
T |
C |
2: 154,454,897 (GRCm39) |
N154S |
unknown |
Het |
| Ank3 |
C |
T |
10: 69,828,311 (GRCm39) |
H2327Y |
|
Het |
| Ano6 |
A |
G |
15: 95,818,172 (GRCm39) |
Y305C |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,151,170 (GRCm39) |
T2075A |
possibly damaging |
Het |
| Arl6 |
A |
G |
16: 59,443,455 (GRCm39) |
V93A |
possibly damaging |
Het |
| Bcas3 |
T |
C |
11: 85,474,763 (GRCm39) |
S790P |
probably damaging |
Het |
| Bcl9l |
C |
A |
9: 44,416,448 (GRCm39) |
H211N |
probably benign |
Het |
| Bptf |
G |
T |
11: 107,022,233 (GRCm39) |
D172E |
unknown |
Het |
| Card9 |
T |
G |
2: 26,249,496 (GRCm39) |
I22L |
possibly damaging |
Het |
| Catsperg1 |
C |
A |
7: 28,884,637 (GRCm39) |
G933V |
probably damaging |
Het |
| Catsperg2 |
T |
A |
7: 29,404,750 (GRCm39) |
H771L |
possibly damaging |
Het |
| Ccdc66 |
T |
C |
14: 27,215,229 (GRCm39) |
N281S |
possibly damaging |
Het |
| Cfap54 |
A |
T |
10: 92,612,072 (GRCm39) |
L3162H |
probably damaging |
Het |
| Clca4a |
A |
G |
3: 144,663,934 (GRCm39) |
L503P |
probably benign |
Het |
| Cpn1 |
T |
C |
19: 43,962,470 (GRCm39) |
N160D |
probably damaging |
Het |
| Ctsh |
T |
A |
9: 89,949,154 (GRCm39) |
I206K |
probably benign |
Het |
| Cyb561d1 |
G |
A |
3: 108,106,679 (GRCm39) |
T180M |
probably damaging |
Het |
| Dapk1 |
A |
T |
13: 60,909,599 (GRCm39) |
D1404V |
probably damaging |
Het |
| Dip2c |
G |
T |
13: 9,556,684 (GRCm39) |
R76L |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,719,898 (GRCm39) |
I2783T |
probably damaging |
Het |
| E130308A19Rik |
T |
C |
4: 59,690,333 (GRCm39) |
Y56H |
probably damaging |
Het |
| Efemp2 |
G |
T |
19: 5,530,285 (GRCm39) |
A310S |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Faap24 |
G |
A |
7: 35,092,279 (GRCm39) |
Q213* |
probably null |
Het |
| Fam181b |
G |
A |
7: 92,729,943 (GRCm39) |
G239S |
possibly damaging |
Het |
| Fancm |
T |
C |
12: 65,148,394 (GRCm39) |
W670R |
probably damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,853,944 (GRCm39) |
L1636* |
probably null |
Het |
| Fmnl1 |
T |
C |
11: 103,081,224 (GRCm39) |
Y357H |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,279,653 (GRCm39) |
V215E |
probably damaging |
Het |
| Fscn2 |
C |
A |
11: 120,253,335 (GRCm39) |
N267K |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,816,571 (GRCm39) |
Y4101* |
probably null |
Het |
| Gcn1 |
G |
A |
5: 115,728,352 (GRCm39) |
V738I |
probably benign |
Het |
| Gdf9 |
C |
T |
11: 53,328,366 (GRCm39) |
R441C |
probably damaging |
Het |
| Gipc3 |
C |
T |
10: 81,177,455 (GRCm39) |
G79E |
probably damaging |
Het |
| Gzmf |
T |
A |
14: 56,443,391 (GRCm39) |
I196L |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,806,080 (GRCm39) |
V1852E |
probably damaging |
Het |
| Hip1r |
A |
T |
5: 124,134,007 (GRCm39) |
Q256L |
probably benign |
Het |
| Hmgxb4 |
T |
C |
8: 75,746,890 (GRCm39) |
S405P |
probably damaging |
Het |
| Il9r |
T |
A |
11: 32,142,671 (GRCm39) |
H294L |
probably benign |
Het |
| Kif12 |
G |
A |
4: 63,086,931 (GRCm39) |
T331I |
probably damaging |
Het |
| Krtap8-1 |
A |
T |
16: 89,284,794 (GRCm39) |
M1K |
probably null |
Het |
| Lamc2 |
A |
T |
1: 153,015,495 (GRCm39) |
C613S |
probably damaging |
Het |
| Lgr4 |
T |
A |
2: 109,831,314 (GRCm39) |
N314K |
probably benign |
Het |
| Lpcat2 |
T |
C |
8: 93,635,894 (GRCm39) |
I432T |
probably benign |
Het |
| Mfhas1 |
T |
C |
8: 36,056,146 (GRCm39) |
V207A |
probably benign |
Het |
| Msh3 |
T |
G |
13: 92,485,806 (GRCm39) |
T173P |
probably benign |
Het |
| Mup15 |
T |
A |
4: 61,356,505 (GRCm39) |
M87L |
probably benign |
Het |
| N4bp2 |
T |
C |
5: 65,965,365 (GRCm39) |
V1138A |
probably benign |
Het |
| Noc2l |
T |
C |
4: 156,326,179 (GRCm39) |
V422A |
probably benign |
Het |
| Notch3 |
C |
T |
17: 32,377,936 (GRCm39) |
G74D |
probably damaging |
Het |
| Ocstamp |
T |
A |
2: 165,240,081 (GRCm39) |
K35I |
probably benign |
Het |
| Or12k7 |
T |
C |
2: 36,958,400 (GRCm39) |
F28L |
possibly damaging |
Het |
| Or52w1 |
A |
G |
7: 105,017,968 (GRCm39) |
H145R |
probably benign |
Het |
| Or5p58 |
A |
G |
7: 107,694,342 (GRCm39) |
V145A |
probably benign |
Het |
| Or9a2 |
T |
G |
6: 41,748,961 (GRCm39) |
T91P |
probably benign |
Het |
| Pof1b |
A |
G |
X: 111,554,042 (GRCm39) |
I544T |
probably benign |
Het |
| Rad54l2 |
C |
T |
9: 106,590,677 (GRCm39) |
R483H |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,567,189 (GRCm39) |
D1128E |
possibly damaging |
Het |
| Rhbdl2 |
T |
A |
4: 123,708,049 (GRCm39) |
I86N |
possibly damaging |
Het |
| Rims1 |
C |
A |
1: 22,498,740 (GRCm39) |
R68L |
|
Het |
| Rnf157 |
A |
G |
11: 116,253,199 (GRCm39) |
F70L |
possibly damaging |
Het |
| Rtp3 |
C |
T |
9: 110,815,009 (GRCm39) |
C452Y |
unknown |
Het |
| S100a14 |
A |
T |
3: 90,435,069 (GRCm39) |
K27* |
probably null |
Het |
| Scai |
C |
T |
2: 38,996,948 (GRCm39) |
G282D |
possibly damaging |
Het |
| Sclt1 |
A |
T |
3: 41,672,195 (GRCm39) |
I132N |
probably benign |
Het |
| Serpinf1 |
T |
A |
11: 75,308,811 (GRCm39) |
Q2L |
possibly damaging |
Het |
| Skor2 |
T |
A |
18: 76,948,681 (GRCm39) |
V801E |
probably benign |
Het |
| Slc16a10 |
C |
G |
10: 39,913,255 (GRCm39) |
E484D |
probably benign |
Het |
| Slc1a5 |
T |
A |
7: 16,531,463 (GRCm39) |
D489E |
probably damaging |
Het |
| Slx4 |
C |
T |
16: 3,808,650 (GRCm39) |
R430H |
probably benign |
Het |
| Teddm1b |
A |
T |
1: 153,750,679 (GRCm39) |
I163F |
probably damaging |
Het |
| Tmem171 |
A |
T |
13: 98,828,744 (GRCm39) |
C135* |
probably null |
Het |
| Tmem82 |
C |
T |
4: 141,342,284 (GRCm39) |
R306H |
possibly damaging |
Het |
| Tmem94 |
T |
A |
11: 115,681,781 (GRCm39) |
|
probably null |
Het |
| Trpm2 |
A |
C |
10: 77,759,848 (GRCm39) |
L1096R |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,730,859 (GRCm39) |
L780Q |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,718,732 (GRCm39) |
D521G |
probably benign |
Het |
| Usp7 |
T |
C |
16: 8,534,390 (GRCm39) |
D59G |
probably benign |
Het |
| Vcan |
G |
A |
13: 89,873,710 (GRCm39) |
T48I |
probably damaging |
Het |
| Vmn1r45 |
A |
G |
6: 89,910,316 (GRCm39) |
L218P |
probably damaging |
Het |
| Wdr25 |
A |
T |
12: 108,990,922 (GRCm39) |
T370S |
probably damaging |
Het |
|
| Other mutations in Plekhh2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00430:Plekhh2
|
APN |
17 |
84,829,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00514:Plekhh2
|
APN |
17 |
84,903,734 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00773:Plekhh2
|
APN |
17 |
84,914,296 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00985:Plekhh2
|
APN |
17 |
84,871,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01116:Plekhh2
|
APN |
17 |
84,914,356 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01394:Plekhh2
|
APN |
17 |
84,864,858 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01419:Plekhh2
|
APN |
17 |
84,890,980 (GRCm39) |
splice site |
probably benign |
|
|
IGL01932:Plekhh2
|
APN |
17 |
84,884,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02097:Plekhh2
|
APN |
17 |
84,906,608 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02157:Plekhh2
|
APN |
17 |
84,874,370 (GRCm39) |
splice site |
probably benign |
|
|
IGL02163:Plekhh2
|
APN |
17 |
84,898,223 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02237:Plekhh2
|
APN |
17 |
84,883,213 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02322:Plekhh2
|
APN |
17 |
84,896,894 (GRCm39) |
nonsense |
probably null |
|
|
IGL02422:Plekhh2
|
APN |
17 |
84,871,237 (GRCm39) |
splice site |
probably benign |
|
|
IGL02483:Plekhh2
|
APN |
17 |
84,903,688 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02493:Plekhh2
|
APN |
17 |
84,914,391 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03007:Plekhh2
|
APN |
17 |
84,882,388 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0003:Plekhh2
|
UTSW |
17 |
84,864,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0005:Plekhh2
|
UTSW |
17 |
84,893,861 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0099:Plekhh2
|
UTSW |
17 |
84,899,100 (GRCm39) |
nonsense |
probably null |
|
|
R0331:Plekhh2
|
UTSW |
17 |
84,893,794 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0883:Plekhh2
|
UTSW |
17 |
84,925,459 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1051:Plekhh2
|
UTSW |
17 |
84,829,255 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1084:Plekhh2
|
UTSW |
17 |
84,878,554 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1351:Plekhh2
|
UTSW |
17 |
84,884,574 (GRCm39) |
splice site |
probably benign |
|
|
R1459:Plekhh2
|
UTSW |
17 |
84,918,203 (GRCm39) |
nonsense |
probably null |
|
|
R1469:Plekhh2
|
UTSW |
17 |
84,883,199 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1469:Plekhh2
|
UTSW |
17 |
84,883,199 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1510:Plekhh2
|
UTSW |
17 |
84,867,004 (GRCm39) |
splice site |
probably null |
|
|
R1699:Plekhh2
|
UTSW |
17 |
84,884,612 (GRCm39) |
nonsense |
probably null |
|
|
R1738:Plekhh2
|
UTSW |
17 |
84,874,125 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1773:Plekhh2
|
UTSW |
17 |
84,906,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1796:Plekhh2
|
UTSW |
17 |
84,906,561 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1823:Plekhh2
|
UTSW |
17 |
84,882,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1998:Plekhh2
|
UTSW |
17 |
84,914,305 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2437:Plekhh2
|
UTSW |
17 |
84,893,907 (GRCm39) |
splice site |
probably null |
|
|
R2847:Plekhh2
|
UTSW |
17 |
84,905,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4088:Plekhh2
|
UTSW |
17 |
84,925,427 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4227:Plekhh2
|
UTSW |
17 |
84,874,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4249:Plekhh2
|
UTSW |
17 |
84,893,765 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4347:Plekhh2
|
UTSW |
17 |
84,927,130 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4562:Plekhh2
|
UTSW |
17 |
84,873,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4649:Plekhh2
|
UTSW |
17 |
84,882,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4737:Plekhh2
|
UTSW |
17 |
84,871,387 (GRCm39) |
missense |
probably benign |
|
|
R4743:Plekhh2
|
UTSW |
17 |
84,878,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4858:Plekhh2
|
UTSW |
17 |
84,908,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5036:Plekhh2
|
UTSW |
17 |
84,879,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5260:Plekhh2
|
UTSW |
17 |
84,884,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5385:Plekhh2
|
UTSW |
17 |
84,864,894 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5409:Plekhh2
|
UTSW |
17 |
84,893,906 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5510:Plekhh2
|
UTSW |
17 |
84,874,275 (GRCm39) |
missense |
probably benign |
|
|
R5557:Plekhh2
|
UTSW |
17 |
84,867,580 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5684:Plekhh2
|
UTSW |
17 |
84,905,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5685:Plekhh2
|
UTSW |
17 |
84,877,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5724:Plekhh2
|
UTSW |
17 |
84,874,233 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5742:Plekhh2
|
UTSW |
17 |
84,905,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5817:Plekhh2
|
UTSW |
17 |
84,879,154 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6218:Plekhh2
|
UTSW |
17 |
84,898,992 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6334:Plekhh2
|
UTSW |
17 |
84,874,294 (GRCm39) |
missense |
probably benign |
|
|
R6345:Plekhh2
|
UTSW |
17 |
84,883,215 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6617:Plekhh2
|
UTSW |
17 |
84,873,715 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6755:Plekhh2
|
UTSW |
17 |
84,899,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6864:Plekhh2
|
UTSW |
17 |
84,925,427 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7413:Plekhh2
|
UTSW |
17 |
84,873,724 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7585:Plekhh2
|
UTSW |
17 |
84,884,608 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7640:Plekhh2
|
UTSW |
17 |
84,918,204 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7733:Plekhh2
|
UTSW |
17 |
84,890,952 (GRCm39) |
nonsense |
probably null |
|
|
R7877:Plekhh2
|
UTSW |
17 |
84,882,434 (GRCm39) |
missense |
probably benign |
|
|
R8085:Plekhh2
|
UTSW |
17 |
84,905,384 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8206:Plekhh2
|
UTSW |
17 |
84,898,277 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8296:Plekhh2
|
UTSW |
17 |
84,908,113 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8344:Plekhh2
|
UTSW |
17 |
84,879,189 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8438:Plekhh2
|
UTSW |
17 |
84,877,379 (GRCm39) |
missense |
probably benign |
|
|
R8487:Plekhh2
|
UTSW |
17 |
84,864,909 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8708:Plekhh2
|
UTSW |
17 |
84,882,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8830:Plekhh2
|
UTSW |
17 |
84,829,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8847:Plekhh2
|
UTSW |
17 |
84,878,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8918:Plekhh2
|
UTSW |
17 |
84,906,621 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9047:Plekhh2
|
UTSW |
17 |
84,898,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9404:Plekhh2
|
UTSW |
17 |
84,878,468 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9428:Plekhh2
|
UTSW |
17 |
84,873,841 (GRCm39) |
missense |
probably benign |
|
|
R9516:Plekhh2
|
UTSW |
17 |
84,918,240 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9559:Plekhh2
|
UTSW |
17 |
84,899,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9589:Plekhh2
|
UTSW |
17 |
84,854,918 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9641:Plekhh2
|
UTSW |
17 |
84,874,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9659:Plekhh2
|
UTSW |
17 |
84,854,892 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9788:Plekhh2
|
UTSW |
17 |
84,854,892 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCACCCCAGTATGGCTTC -3'
(R):5'- TCGACTGCAGCTTCAAATACCTC -3'
Sequencing Primer
(F):5'- CACAGAATCTAAGACTTGTGTGTGG -3'
(R):5'- CTGCAGCTTCAAATACCTCATAAATG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation